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Hypertrophic Cardiomyopathy with Mitochondrial Myopathy. A new Phenotype of Complex II Defect
- Source :
- Japanese Heart Journal. 34:63-77
- Publication Year :
- 1993
- Publisher :
- International Heart Journal (Japanese Heart Journal), 1993.
-
Abstract
- Two brothers, 25 and 19 years old, were affected by asymmetrical hypertrophic cardiomyopathy. The older brother had waddling gait and weakness of the proximal girdle muscles, while the younger had a broad-based gait and weakness of selected limb girdle muscles. EMG exam was myopathic. Serum enzyme, CPK and aldolase were elevated. Histochemical reactions in muscle revealed "core-like" areas, subsarcolemmal rims of mitochondria and lipid accumulation. Succinatedehydrogenase stain showed a lack of activity in both biopsies, with the exception of intrafusal fibers. Microphotometric quantitative measurements confirmed the defect in both biopsies. Biochemical measurements of several mitochondrial enzymes in muscle showed a reduced activity of succinate-dehydrogenase (33%) and succinate-cytochrome C reductase (36-47%) which are both components of complex II. On myocardial biopsy lipid and mitochondrial abnormalities were found. This mitochondriopathy represents a new phenotype of partial complex II defect.
Details
- ISSN :
- 1348673X and 00214868
- Volume :
- 34
- Database :
- OpenAIRE
- Journal :
- Japanese Heart Journal
- Accession number :
- edsair.doi...........73a54fb04ce5e508ed415a464c7a8ce3